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“Choosing Wisely”: Apolipoprotein E Genetic Testing for the Diagnosis of Alzheimer’s Disease in Dementia Clinics
Year of publication 2020
Title of paper “Choosing Wisely”: Apolipoprotein E Genetic Testing for the Diagnosis of Alzheimer’s Disease in Dementia Clinics
Author Hyun Ju Yang, Na Ri Kang, Young Eun Jung, Moon Doo Kim, Hyun Ghang Jeong, Tae Jin Lee, Ji Won Han, Ki Woong Kim, Joon Hyuk Park
Publication in journal Journal of Alzheimer's Disease
Status of publication accepted
Vol 74
Link https://pubmed.ncbi.nlm.nih.gov/32176640/ 427회 연결

Background: Apolipoprotein E (APOE) 4 allele carriers have an increased risk of late-onset Alzheimer’s disease (AD).However, in the “Choosing Wisely” campaign for avoiding unnecessary medical tests, treatments, and procedures, APOEgenetic testing is not recommended as a predictive test for AD.Objective: The aim of this study was to investigate the potential value of APOE genetic testing in a specific clinical context.




Methods: Subjects with poor performance in the Korean version of the Mini-Mental Status Examination for dementiascreening (MMSE-DS) with a Z-score of less than –1.5 were recruited from the public health centers. All participantsunderwent APOE genetic testing. Family history of dementia (FHx) was confirmed if one or more first-degree relatives haddementia.




Results: Among 349 subjects, 162 (46.4%) were diagnosed with AD. APOE 4 allele carriers had a much higher risk of AD inthe group with FHx than in the group without FHx (OR = 15.81, 95% CI = 2.74–91.21 versus OR = 1.82, 95% CI = 1.00–3.27,z = 2.293, p = 0.011). The sensitivity, specificity, positive predictive value, and negative predictive value for the APOE 4allele were 47.7%, 90.9%, 91.3%, and 46.5% in the group with FHx.




Conclusion: It would be a wise choice to perform the APOE genetic testing for the diagnosis of AD in subjects with poorperformance in a screening test and a family history of dementia.